Abstract
Introduction
A 2-year and 7-month-old girl is undergoing several treatments to attenuate the effects of type 2 Gaucher disease on her health. She has been diagnosed with type 2 Gaucher disease since she was three months old and several symptoms have appeared during that short lap of time.
Case presentation
In a type 2 Gaucher disease patient, the lysosomal enzyme β-glucocerebrosidase undergoes mutation and is therefore unable to break down glucocerebroside into ceramide and glucose. Glucocerebroside present outside the macrophages in other cell types is responsible for causing the degradation or production of other complex glycolipids. This therefore triggers cell death and can eventually affect calcium metabolism and neurological functions. The accumulation of glucocerebroside within macrophage lysosomes causes tissue damage, localised compression of blood vessels as well as macrophage activation [5]. …show more content…
Epidermal abnormalities along with ichthyosis were present on the two year old patient and therefore gave an indication about the presence of type 2 GD [9]. At three months of age, the patient was displaying rapid head thrusts when visually following a moving object. Tonic seizures were present followed by laryngospasm at the age at the age of 14 and 20 months respectively. At two and a half years of age, she suffered from epilepticus and severe incessant myoclonus. Since type 2 GD is a congenital disease, this means that the mutation of one or more genes is present during the fetal development. In fact, the GBA1 and L444P mutations are the most common ones
Introduction
A 2-year and 7-month-old girl is undergoing several treatments to attenuate the effects of type 2 Gaucher disease on her health. She has been diagnosed with type 2 Gaucher disease since she was three months old and several symptoms have appeared during that short lap of time.
Case presentation
In a type 2 Gaucher disease patient, the lysosomal enzyme β-glucocerebrosidase undergoes mutation and is therefore unable to break down glucocerebroside into ceramide and glucose. Glucocerebroside present outside the macrophages in other cell types is responsible for causing the degradation or production of other complex glycolipids. This therefore triggers cell death and can eventually affect calcium metabolism and neurological functions. The accumulation of glucocerebroside within macrophage lysosomes causes tissue damage, localised compression of blood vessels as well as macrophage activation [5]. …show more content…
Epidermal abnormalities along with ichthyosis were present on the two year old patient and therefore gave an indication about the presence of type 2 GD [9]. At three months of age, the patient was displaying rapid head thrusts when visually following a moving object. Tonic seizures were present followed by laryngospasm at the age at the age of 14 and 20 months respectively. At two and a half years of age, she suffered from epilepticus and severe incessant myoclonus. Since type 2 GD is a congenital disease, this means that the mutation of one or more genes is present during the fetal development. In fact, the GBA1 and L444P mutations are the most common ones